ClinVar Miner

List of variants in gene TBR1 reported as uncertain significance for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys) rs762713626
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)
NM_006593.4(TBR1):c.1191-5C>A rs1412546585
NM_006593.4(TBR1):c.1271G>A (p.Arg424His)
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr) rs1684280120
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly) rs1684282566
NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu)
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser) rs1559059936
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)
NM_006593.4(TBR1):c.592G>C (p.Gly198Arg) rs764392292
NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)
NM_006593.4(TBR1):c.73C>A (p.Pro25Thr) rs757176020
NM_006593.4(TBR1):c.748T>C (p.Tyr250His)
NM_006593.4(TBR1):c.842T>C (p.Val281Ala)
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)

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